rs80356521

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs80356521(-;-)

Make rs80356521(-;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

58153415

Gene

FLNB

is a	snp
is	mentioned by
dbSNP	rs80356521
dbSNP (classic)	rs80356521
ClinGen	rs80356521
ebi	rs80356521
HLI	rs80356521
Exac	rs80356521
Gnomad	rs80356521
Varsome	rs80356521
LitVar	rs80356521
Map	rs80356521
PheGenI	rs80356521
Biobank	rs80356521
1000 genomes	rs80356521
hgdp	rs80356521
ensembl	rs80356521
geneview	rs80356521
scholar	rs80356521
google	rs80356521
pharmgkb	rs80356521
gwascentral	rs80356521
openSNP	rs80356521
23andMe	rs80356521
SNPshot	rs80356521
SNPdbe	rs80356521
MSV3d	rs80356521
GWAS Ctlg	rs80356521

Max Magnitude

0

OMIM	603381
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80356521(-;-)
Alt	rs80356521(-;-)
Reference	Rs80356521(C;C)
Significance	Pathogenic
Disease	Spondylocarpotarsal synostosis syndrome
Variation	info
Gene	FLNB
CLNDBN	Spondylocarpotarsal synostosis syndrome
Reversed	0
HGVS	NC_000003.11:g.58139142delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006767.3,

[PMID 14991055] Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.